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7674 (T > C)

General info

Mitimpact ID
MI.5372
Chr
chrM
Start
7674
Ref
T
Alt
C
Gene symbol
MT-CO2 Extended gene annotation
Gene position
89
Gene start
7586
Gene end
8269
Gene strand
+
Codon substitution
ATC/ACC
AA pos
30
AA ref
I
AA alt
T
Functional effect
missense
OMIM ID
516040
HGVS
NC_012920.1:g.7674T>C
HGNC ID
7421
RC complex
IV
Ensembl gene ID
ENSG00000198712
Ensembl protein ID
ENSP00000354876
Ensembl transcript ID
ENST00000361739
Uniprot ID
P00403
Uniprot name
COX2_HUMAN
Ncbi gene ID
4513
Ncbi protein ID
YP_003024029.1
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Powered by MitoWheel

Conservation

PhyloP 100v
3.98 Conservation Score
PhyloP 470way
0.666 Conservation Score
PhastCons 100v
1 Conservation Score
PhastCons 470way
0.246 Conservation Score

Pathogenicity predictors

PolyPhen2
Benign Score and details of the predictor
SIFT
Neutral Score and details of the predictor
SIFT4G
Damaging Score and details of the predictor
VEST
Neutral Score and details of the predictor
MitoClass 1
Damaging Score and details of the predictor
SNPDryad
Pathogenic Score and details of the predictor
MutationTaster
Polymorphism Score and details of the predictor
fathmm
Tolerated Score and details of the predictor
AlphaMissense
Likely pathogenic Score and details of the predictor
CADD
Neutral Score and details of the predictor
PROVEAN
Damaging Score and details of the predictor
Mutation Assessor
Medium Score and details of the predictor
EFIN SP
Neutral Score and details of the predictor
EFIN HD
Neutral Score and details of the predictor
MLC
Neutral Score and details of the predictor
PANTHER
.
PhD-SNP
.

Pathogenicity meta-predictors

APOGEE1
Pathogenic Score and details of the meta-predictor
APOGEE2
Likely-benign Score and details of the meta-predictor
CAROL
Neutral Score and details of the meta-predictor
Condel
Deleterious Score and details of the meta-predictor
COVEC WMV
Neutral Score and details of the meta-predictor
MtoolBox
Neutral Score and details of the meta-predictor
DEOGEN2
Tolerated Score and details of the meta-predictor
Meta SNP
.

Cancer-specific predictors

PolyPhen2 transf
Medium impact Score and details of the cancer-specific predictor
SIFT transf
Medium impact Score and details of the cancer-specific predictor
MutationAssessor transf
Medium impact Score and details of the cancer-specific predictor
CHASM
Neutral Score and details of the cancer-specific predictor

Databases of Frequencies and Phenotypes

Clinvar ID
692758
Clinvar ALLELEID
681294
Clinvar CLNDISDB
Mondo:mondo:0009723, medgen:c0023264, omim:256000, orphanet:506;

medgen:cn517202
Clinvar CLNDN
Leigh syndrome;

not provided
Clinvar CLNSIG
Likely benign
MITOMAP Allele
7674T>C
MITOMAP Disease Clinical info
.
MITOMAP Disease Status
.
MITOMAP Disease Hom/Het
./.
MITOMAP General GenBank Freq
0.0262%
MITOMAP General GenBank Seqs
16
MITOMAP General GenBank Curated refs
24448545
MITOMAP Variant Class
polymorphism
Gnomad AN
56427
Gnomad AC hom
18
Gnomad AF hom
0.0003189
Gnomad AC het
2
Gnomad AF het
3.54e-05
Gnomad filter
Pass
HelixMTdb AC hom
55
HelixMTdb AF hom
0.0002806
HelixMTdb AC het
9
HelixMTdb AF het
4.59e-05
HelixMTdb mean ARF
0.39336
HelixMTdb max ARF
0.85256
ToMMo JPN54K AC
3
ToMMo JPN54K AF
5.5e-05
ToMMo JPN54K AN
54302
COSMIC 90
.
dbSNP 156
rs1569484168

Residue interaction

EVmutation
Site A-B InterP
Site A-B IntraP
ΔΔG intra
ΔΔG intra interface
ΔΔG inter

Compensated Pathogenic Deviations

Frequency
.
AA ref
.
CPD AA alt
.
Aln pos
.
RefSeq protein ID
.
Species name
.
Ncbi taxon ID
.

7674 (T > A)

General info

Mitimpact ID
MI.5373
Chr
chrM
Start
7674
Ref
T
Alt
A
Gene symbol
MT-CO2 Extended gene annotation
Gene position
89
Gene start
7586
Gene end
8269
Gene strand
+
Codon substitution
ATC/AAC
AA pos
30
AA ref
I
AA alt
N
Functional effect
missense
OMIM ID
516040
HGVS
NC_012920.1:g.7674T>A
HGNC ID
7421
RC complex
IV
Ensembl gene ID
ENSG00000198712
Ensembl protein ID
ENSP00000354876
Ensembl transcript ID
ENST00000361739
Uniprot ID
P00403
Uniprot name
COX2_HUMAN
Ncbi gene ID
4513
Ncbi protein ID
YP_003024029.1
Powered by NGL Viewer
Powered by MitoWheel

Conservation

PhyloP 100v
3.98 Conservation Score
PhyloP 470way
0.666 Conservation Score
PhastCons 100v
1 Conservation Score
PhastCons 470way
0.246 Conservation Score

Pathogenicity predictors

PolyPhen2
Possibly damaging Score and details of the predictor
SIFT
Neutral Score and details of the predictor
SIFT4G
Damaging Score and details of the predictor
VEST
Neutral Score and details of the predictor
MitoClass 1
Damaging Score and details of the predictor
SNPDryad
Pathogenic Score and details of the predictor
MutationTaster
Polymorphism Score and details of the predictor
fathmm
Tolerated Score and details of the predictor
AlphaMissense
Likely pathogenic Score and details of the predictor
CADD
Deleterious Score and details of the predictor
PROVEAN
Damaging Score and details of the predictor
Mutation Assessor
High Score and details of the predictor
EFIN SP
Damaging Score and details of the predictor
EFIN HD
Neutral Score and details of the predictor
MLC
Neutral Score and details of the predictor
PANTHER
.
PhD-SNP
.

Pathogenicity meta-predictors

APOGEE1
Neutral Score and details of the meta-predictor
APOGEE2
Vus Score and details of the meta-predictor
CAROL
Neutral Score and details of the meta-predictor
Condel
Neutral Score and details of the meta-predictor
COVEC WMV
Deleterious Score and details of the meta-predictor
MtoolBox
Deleterious Score and details of the meta-predictor
DEOGEN2
Tolerated Score and details of the meta-predictor
Meta SNP
.

Cancer-specific predictors

PolyPhen2 transf
Medium impact Score and details of the cancer-specific predictor
SIFT transf
Medium impact Score and details of the cancer-specific predictor
MutationAssessor transf
High impact Score and details of the cancer-specific predictor
CHASM
Neutral Score and details of the cancer-specific predictor

Databases of Frequencies and Phenotypes

Clinvar ID
.
Clinvar ALLELEID
.
Clinvar CLNDISDB
.
Clinvar CLNDN
.
Clinvar CLNSIG
.
MITOMAP Allele
7674T>A
MITOMAP Disease Clinical info
.
MITOMAP Disease Status
.
MITOMAP Disease Hom/Het
./.
MITOMAP General GenBank Freq
.
MITOMAP General GenBank Seqs
.
MITOMAP General GenBank Curated refs
.
MITOMAP Variant Class
.
Gnomad AN
0
Gnomad AC hom
0
Gnomad AF hom
0.0
Gnomad AC het
.
Gnomad AF het
.
Gnomad filter
.
HelixMTdb AC hom
0
HelixMTdb AF hom
0.0
HelixMTdb AC het
.
HelixMTdb AF het
0.0
HelixMTdb mean ARF
0.0
HelixMTdb max ARF
.
ToMMo JPN54K AC
.
ToMMo JPN54K AF
.
ToMMo JPN54K AN
.
COSMIC 90
.
dbSNP 156
.

Residue interaction

EVmutation
Site A-B InterP
Site A-B IntraP
ΔΔG intra
ΔΔG intra interface
ΔΔG inter

Compensated Pathogenic Deviations

Frequency
.
AA ref
.
CPD AA alt
.
Aln pos
.
RefSeq protein ID
.
Species name
.
Ncbi taxon ID
.

7674 (T > G)

General info

Mitimpact ID
MI.5371
Chr
chrM
Start
7674
Ref
T
Alt
G
Gene symbol
MT-CO2 Extended gene annotation
Gene position
89
Gene start
7586
Gene end
8269
Gene strand
+
Codon substitution
ATC/AGC
AA pos
30
AA ref
I
AA alt
S
Functional effect
missense
OMIM ID
516040
HGVS
NC_012920.1:g.7674T>G
HGNC ID
7421
RC complex
IV
Ensembl gene ID
ENSG00000198712
Ensembl protein ID
ENSP00000354876
Ensembl transcript ID
ENST00000361739
Uniprot ID
P00403
Uniprot name
COX2_HUMAN
Ncbi gene ID
4513
Ncbi protein ID
YP_003024029.1
Powered by NGL Viewer
Powered by MitoWheel

Conservation

PhyloP 100v
3.98 Conservation Score
PhyloP 470way
0.666 Conservation Score
PhastCons 100v
1 Conservation Score
PhastCons 470way
0.246 Conservation Score

Pathogenicity predictors

PolyPhen2
Benign Score and details of the predictor
SIFT
Neutral Score and details of the predictor
SIFT4G
Damaging Score and details of the predictor
VEST
Neutral Score and details of the predictor
MitoClass 1
Damaging Score and details of the predictor
SNPDryad
Neutral Score and details of the predictor
MutationTaster
Polymorphism Score and details of the predictor
fathmm
Tolerated Score and details of the predictor
AlphaMissense
Likely pathogenic Score and details of the predictor
CADD
Neutral Score and details of the predictor
PROVEAN
Damaging Score and details of the predictor
Mutation Assessor
High Score and details of the predictor
EFIN SP
Damaging Score and details of the predictor
EFIN HD
Neutral Score and details of the predictor
MLC
Neutral Score and details of the predictor
PANTHER
.
PhD-SNP
.

Pathogenicity meta-predictors

APOGEE1
Neutral Score and details of the meta-predictor
APOGEE2
Vus Score and details of the meta-predictor
CAROL
Neutral Score and details of the meta-predictor
Condel
Neutral Score and details of the meta-predictor
COVEC WMV
Neutral Score and details of the meta-predictor
MtoolBox
Deleterious Score and details of the meta-predictor
DEOGEN2
Tolerated Score and details of the meta-predictor
Meta SNP
.

Cancer-specific predictors

PolyPhen2 transf
Medium impact Score and details of the cancer-specific predictor
SIFT transf
Medium impact Score and details of the cancer-specific predictor
MutationAssessor transf
High impact Score and details of the cancer-specific predictor
CHASM
Neutral Score and details of the cancer-specific predictor

Databases of Frequencies and Phenotypes

Clinvar ID
.
Clinvar ALLELEID
.
Clinvar CLNDISDB
.
Clinvar CLNDN
.
Clinvar CLNSIG
.
MITOMAP Allele
7674T>G
MITOMAP Disease Clinical info
.
MITOMAP Disease Status
.
MITOMAP Disease Hom/Het
./.
MITOMAP General GenBank Freq
.
MITOMAP General GenBank Seqs
.
MITOMAP General GenBank Curated refs
.
MITOMAP Variant Class
.
Gnomad AN
0
Gnomad AC hom
0
Gnomad AF hom
0.0
Gnomad AC het
.
Gnomad AF het
.
Gnomad filter
.
HelixMTdb AC hom
0
HelixMTdb AF hom
0.0
HelixMTdb AC het
.
HelixMTdb AF het
0.0
HelixMTdb mean ARF
0.0
HelixMTdb max ARF
.
ToMMo JPN54K AC
.
ToMMo JPN54K AF
.
ToMMo JPN54K AN
.
COSMIC 90
.
dbSNP 156
.

Residue interaction

EVmutation
Site A-B InterP
Site A-B IntraP
ΔΔG intra
ΔΔG intra interface
ΔΔG inter

Compensated Pathogenic Deviations

Frequency
.
AA ref
.
CPD AA alt
.
Aln pos
.
RefSeq protein ID
.
Species name
.
Ncbi taxon ID
.
~ 7674 (T/C) 7674 (T/A) 7674 (T/G)
~ 7674 (ATC/ACC) 7674 (ATC/AAC) 7674 (ATC/AGC)
MitImpact id MI.5372 MI.5373 MI.5371
Chr chrM chrM chrM
Start 7674 7674 7674
Ref T T T
Alt C A G
Gene symbol MT-CO2 MT-CO2 MT-CO2
Extended annotation mitochondrially encoded cytochrome c oxidase II mitochondrially encoded cytochrome c oxidase II mitochondrially encoded cytochrome c oxidase II
Gene position 89 89 89
Gene start 7586 7586 7586
Gene end 8269 8269 8269
Gene strand + + +
Codon substitution ATC/ACC ATC/AAC ATC/AGC
AA position 30 30 30
AA ref I I I
AA alt T N S
Functional effect general missense missense missense
Functional effect detailed missense missense missense
OMIM id 516040 516040 516040
HGVS NC_012920.1:g.7674T>C NC_012920.1:g.7674T>A NC_012920.1:g.7674T>G
HGNC id 7421 7421 7421
Respiratory Chain complex IV IV IV
Ensembl gene id ENSG00000198712 ENSG00000198712 ENSG00000198712
Ensembl transcript id ENST00000361739 ENST00000361739 ENST00000361739
Ensembl protein id ENSP00000354876 ENSP00000354876 ENSP00000354876
Uniprot id P00403 P00403 P00403
Uniprot name COX2_HUMAN COX2_HUMAN COX2_HUMAN
Ncbi gene id 4513 4513 4513
Ncbi protein id YP_003024029.1 YP_003024029.1 YP_003024029.1
PhyloP 100V 3.98 3.98 3.98
PhyloP 470Way 0.666 0.666 0.666
PhastCons 100V 1 1 1
PhastCons 470Way 0.246 0.246 0.246
PolyPhen2 benign possibly_damaging benign
PolyPhen2 score 0.03 0.65 0.4
SIFT neutral neutral neutral
SIFT score 0.16 0.08 0.3
SIFT4G Damaging Damaging Damaging
SIFT4G score 0.022 0.0 0.0
VEST Neutral Neutral Neutral
VEST pvalue 0.35 0.2 0.23
VEST FDR 0.5 0.45 0.45
Mitoclass.1 damaging damaging damaging
SNPDryad Pathogenic Pathogenic Neutral
SNPDryad score 0.93 0.99 0.86
MutationTaster Polymorphism Polymorphism Polymorphism
MutationTaster score 0.990132 0.970051 0.962256
MutationTaster converted rankscore 0.24210 0.25723 0.26074
MutationTaster model simple_aae simple_aae simple_aae
MutationTaster AAE I30T I30N I30S
fathmm Tolerated Tolerated Tolerated
fathmm score 1.26 1.21 1.24
fathmm converted rankscore 0.36330 0.37230 0.36691
AlphaMissense likely_pathogenic likely_pathogenic likely_pathogenic
AlphaMissense score 0.5956 0.7457 0.6963
CADD Neutral Deleterious Neutral
CADD score 1.349372 4.101216 2.496469
CADD phred 12.53 23.7 19.44
PROVEAN Damaging Damaging Damaging
PROVEAN score -3.52 -5.75 -4.47
MutationAssessor medium high high
MutationAssessor score 3.28 4.28 4.02
EFIN SP Neutral Damaging Damaging
EFIN SP score 0.704 0.554 0.552
EFIN HD Neutral Neutral Neutral
EFIN HD score 0.422 0.282 0.354
MLC Neutral Neutral Neutral
MLC score 0.07821836 0.07821836 0.07821836
PANTHER score . . .
PhD-SNP score . . .
APOGEE1 Pathogenic Neutral Neutral
APOGEE1 score 0.54 0.47 0.47
APOGEE2 Likely-benign VUS VUS
APOGEE2 score 0.15822264870418 0.45437549582751 0.441565339476965
CAROL neutral neutral neutral
CAROL score 0.83 0.93 0.65
Condel deleterious neutral neutral
Condel score 0.57 0.22 0.45
COVEC WMV neutral deleterious neutral
COVEC WMV score -3 1 -2
MtoolBox neutral deleterious deleterious
MtoolBox DS 0.24 0.68 0.55
DEOGEN2 Tolerated Tolerated Tolerated
DEOGEN2 score 0.146313 0.360393 0.244598
DEOGEN2 converted rankscore 0.48387 0.72664 0.61374
Meta-SNP . . .
Meta-SNP score . . .
PolyPhen2 transf medium impact medium impact medium impact
PolyPhen2 transf score 0.69 -0.97 -0.56
SIFT_transf medium impact medium impact medium impact
SIFT transf score -0.19 -0.38 0
MutationAssessor transf medium impact high impact high impact
MutationAssessor transf score 1.9 2.3 2.5
CHASM Neutral Neutral Neutral
CHASM pvalue 0.6 0.6 0.54
CHASM FDR 0.8 0.8 0.8
ClinVar id 692758.0 . .
ClinVar Allele id 681294.0 . .
ClinVar CLNDISDB MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000,Orphanet:506|MedGen:CN517202 . .
ClinVar CLNDN Leigh_syndrome|not_provided . .
ClinVar CLNSIG Likely_benign . .
MITOMAP Disease Clinical info . . .
MITOMAP Disease Status . . .
MITOMAP Disease Hom/Het ./. ./. ./.
MITOMAP General GenBank Freq 0.0262% . .
MITOMAP General GenBank Seqs 16 . .
MITOMAP General Curated refs 24448545 . .
MITOMAP Variant Class polymorphism . .
gnomAD 3.1 AN 56427.0 . .
gnomAD 3.1 AC Homo 18.0 . .
gnomAD 3.1 AF Hom 0.000318996 . .
gnomAD 3.1 AC Het 2.0 . .
gnomAD 3.1 AF Het 3.5444e-05 . .
gnomAD 3.1 filter PASS . .
HelixMTdb AC Hom 55.0 . .
HelixMTdb AF Hom 0.0002806366 . .
HelixMTdb AC Het 9.0 . .
HelixMTdb AF Het 4.5922352e-05 . .
HelixMTdb mean ARF 0.39336 . .
HelixMTdb max ARF 0.85256 . .
ToMMo 54KJPN AC 3 . .
ToMMo 54KJPN AF 5.5e-05 . .
ToMMo 54KJPN AN 54302 . .
COSMIC 90 . . .
dbSNP 156 id rs1569484168 . .
For more info, please check the output legend.
ΔΔG values >±0.61 Kcal/mol are indicative of disrupting variants.
ΔΔG values close to zero (<±0.1 Kcal/mol) are indicative of possibly
compensating double mutants.
For more info, please check the output legend.
ΔΔG values >±0.61 Kcal/mol are indicative of disrupting variants.
ΔΔG values close to zero (<±0.1 Kcal/mol) are indicative of possibly
compensating double mutants.
For more info, please check the output legend.
ΔΔG values >±0.61 Kcal/mol are indicative of disrupting variants.
ΔΔG values close to zero (<±0.1 Kcal/mol) are indicative of possibly
compensating double mutants.
For more info, please check the output legend.
For more info, please check the output legend.
0
Details:
0
Score:  
0
  [min -20, max 10]
  • Predicted accelerated evolution:  score <= 0
  • Conserved:  score > 0
Score:  
0
  [min -20, max 12]
  • Predicted accelerated evolution:  score <= 0
  • Conserved:  score > 0
Score:  
0
  [min 0, max 1]
  • Non-conserved:  score <= 0.7
  • Conserved:  score > 0.7 (soft threshold)
Score:  
0
  [min 0, max 1]
  • Non-conserved:  score <= 0.7
  • Conserved:  score > 0.7 (soft threshold)
Score:  
0
  [min 0, max 1]
  • Neutral:  score <= 0.15
  • Possibly damaging:  0.15 < score <= 0.85
  • Probably damaging:  score > 0.85
Score:  
0
  [min 0, max 1]
  • Neutral:  score > 0.05
  • Deleterious:  score <= 0.05
Score:  
0
  [min 0, max 1]
  • Neutral:  score > 0.05
  • Deleterious:  score <= 0.05
Score:  
0
  [min -16.13, max 10.64]
  • Neutral:  score > 1.5
  • Deleterious:  score <= 1.5
Score:  
0
  [min 0.0, max 1.0]
  • Likely benign:  score <= 0.34
  • Ambiguous:  0.34 < score < 0.56
  • Likely pathogenic:  score >= 0.56
Score:  
0
  [min -14, max 14]
  • Neutral:  score > -2.5
  • Deleterious:  score <= -2.5 (soft threshold)
Score:  
0
  [min -6, max 6]
  • Neutral:  score <= 0.8
  • Low impact:  0.8 < score <= 1.9
  • Medium impact:  1.9 < score <= 3.5
  • High impact:  score > 3.5
Score:  
0
  [min 0, max 1]
  • Neutral:  score > 0.6
  • Damaging:  score <= 0.6
Score:  
0
  [min 0, max 1]
  • Neutral:  score > 0.28
  • Damaging:  score <= 0.28
Phred score:  
0
  [min 0, max Unlimited]
  • Neutral:  score < 20 (soft threshold)
  • Deleterious:  score >= 20
Score:  
0
  [min 0, max 1]
  • Neutral:  score < 0.5 (soft threshold)
  • Deleterious:  score >= 0.5
Score:  
0
  [min 0, max 1]
  • Neutral:  score < 0.5
  • Disease:  score >= 0.5
Score:  
0
  [min 0, max 1]
  • Neutral:  score < 0.5
  • Disease:  score >= 0.5
Score:  
0
  [min 0, max 1]
  • Polymorphism:  score < 0.5
  • Disease causing:  score >= 0.5
P-value:  
0
  [min 0, max 1]
  • Neutral:  p-value > 0.05
  • Pathogenic:  p-value <= 0.05
Score:  
0
  [min 0, max 1]
No hard-thresholds were indicated by authors (ref). Indicatively:
  • Neutral:  score < 0.9
  • Pathogenic:  score >= 0.9
No score. Categorical only
Please refer to Additional File 14: Table S10 for further details.
Score:  
0
  [min 0, max 1]
  • Neutral:  score < 0.98
  • Deleterious:  score >= 0.98
Score:  
0
  [min 0, max 1]
  • Neutral:  score < 0.5
  • Disease:  score >= 0.5
Score:  
0
  [min 0, max 1]
  • Neutral:  score < 0.5
  • Deleterious:  score >= 0.5
Score:  
0
  [min -6, max 6]
  • Neutral:  score < 0
  • Deleterious:  score > 0
  • Inaccurate prediction:  score = 0
Score:  
0
  [min 0, max 1]
  • Neutral:  score < 0.5
  • Deleterious:  score >= 0.5
DS score:  
0
  [min 0, max 1]
  • Neutral:  score < 0.43
  • Deleterious:  score >= 0.43
Pathogenicity score:  
0
  [min 0, max 1]
  • Neutral:  score ≤ 0.5
  • Pathogenic:  score > 0.5


Pathogenicity score for this variant:  
0
  [min 0, max 1]
ACMG-AMP curations for mitochondrial variants should use the raw scores. Standalone probabilities are shown below:
  • Benign:  score ≤ 0.062 (prob. ≤ 0.001)
  • Likely-benign:  0.062 < score ≤ 0.265 (0.001 < prob. ≤ 0.1)
  • Low-scoring VUS (VUS-):  0.265 < score ≤ 0.396 (0.1 < prob. ≤ 0.33)
  • VUS:  0.396 < score ≤ 0.544 (0.33 < prob. ≤ 0.66)
  • High-scoring VUS (VUS+):  0.544 < score < 0.716 (0.66 < prob. < 0.9)
  • Likely-pathogenic:  0.716 ≤ score < 0.907 (0.9 ≤ prob. < 0.99)
  • Pathogenic:  score ≥ 0.907 (prob. ≥ 0.99)
Score:  
0
  [min -5, max 5]
  • Low impact:  score <= -1 (soft threshold)
  • Medium impact:  -1 < score < 1.5 (soft threshold)
  • High impact:  score >= 1.5 (soft threshold)
Score:  
0
  [min -5, max 5]
  • Low impact:  score <= -1
  • Medium impact:  -1 < score < 2 (soft threshold)
  • High impact:  score >= 2 (soft threshold)
Score:  
0
  [min -5, max 5]
  • Low impact:  score <= -1
  • Medium impact:  -1 < score < 2 (soft threshold)
  • High impact:  score >= 2 (soft threshold)
P-value:  
0
  [min 0, max 1]
  • Neutral:  FDR > 0.2
  • Driver:  FDR <= 0.2
The frequency of a CPD variant is proportional to the
number of aligned orthologous sequences that
carry a specific human pathogenic variant as
wild-type amino acid on the total number of aligned
sequences.

For more info, please check the output legend